ABCMdb

PMID: 18463004

Laguna TA, Sagel SD, Sontag MK, Accurso FJ
The clinical course of a Mexican female with cystic fibrosis and the novel genotype S531P/S531P.
J Cyst Fibros. 2008 Sep;7(5):454-6. Epub 2008 May 6., [PubMed]

Sentences

No. Mutations Sentence Comment

12 ABCC7 p.Ser531Pro ABCC7 p.Ser531Pro We present a case of a Mexican girl with clinical features of CF and the novel genotype S531P/S531P. Login to comment 25 ABCC7 p.Ser531Pro ABCC7 p.Ser531Pro CFTR gene analysis (Ambry Genetics®) revealed the homozygous presence of a previously undescribed mutation, S531P on exon 11, on a background of the poly T genotype 7T/ 7T. Gross gene deletion(s)/duplication(s) testing was negative. Login to comment 58 ABCC7 p.Ser531Pro S531P mutation To determine the frequency of this mutation in a Hispanic population from the same community, we examined 42 Hispanic patients (84 alleles) from our CF clinic who underwent full CFTR gene sequencing. Login to comment 59 ABCC7 p.Ser531Pro ABCC7 p.Ser531Pro None of these carried the S531P mutation. Login to comment 60 ABCC7 p.Ser531Pro None of these carried the S531P mutation. Login to comment 66 ABCC7 p.Ser531Pro ABCC7 p.Ser531Pro We present a patient with the novel genotype S531P/S531P. Login to comment 67 ABCC7 p.Ser531Pro ABCC7 p.Ser531Pro We present a patient with the novel genotype S531P/S531P. Login to comment 84 ABCC7 p.Ser531Pro Conclusion We found the homozygous presence of a previously undescribed mutation, S531P, in this Mexican patient with severe clinical manifestations of CF. Login to comment 85 ABCC7 p.Ser531Pro Based on her clinical course, we believe S531P is a disease-causing mutation and should be examined in other Hispanics with CF and no previously detected CFTR mutations. Login to comment